Pyruvate dehydrogenase complex (PDHc) deficiency is an autosomal recessive disorder and leads to anion gap metabolic acidosis. Which of the following accumulates to cause metabolic acidosis?
A) acetoacetate
B) fumarate
C) b-hydroxy butyrate
D) hydrochloric acid
E) lactate

Question

Quizplus · Accepted Answer

Pyruvate dehydrogenase complex deficiency leads to the accumulation of pyruvate, which is then converted to lactate, causing lactic acidosis and contributing to the anion gap metabolic acidosis.  Inhibition of 3 PDHc results in impaired oxidation of pyruvate. As the level of pyruvate increases in the cytosol, it is reduced to lactate which can diffuse out of the cell into the blood resulting in lactic acidosis.

Pyruvate Dehydrogenase Complex (PDHc) Deficiency Is an Autosomal Recessive Disorder